Top
20
Doctor insights on: Cystic Fibrosis Two Exon

Share
Dr. William Walsh
988 doctors shared insights

Cystic Fibrosis (Definition)

A genetic disorder of the lungs and digestive tract. It causes recurrent lung infections and inhibits growth in patients and average life expectancy of patients with cystic fibrosis ...Read more


2

2
What is cystic fibrosis exactly?

Inherited disease: Cystic fibrosis (CF) is an inherited disease that affects the cells lining the lungs, sinuses, intestines, spleen and liver. It prevents chloride ions from crossing the cell membranes properly. This can clog organ ducts. In the lungs, the extra mucus crushes the cilia and leads to more lung infections. Medications can help; in late-stage disease, lung transplantation may be life-saving. ...Read more

4

4
I was diagnosed with croup and later with laryngitis. I think i also have cystic fibrosis. How can I tell the difference between the two?

Doubtful: If you suspect you have cystic fibrosis and your doctor thinks further testing is warranted they should be able to order specific testing to rule it out. That being said, croup and laryngitis are not typical presentations of cystic fibrosis. CF symptoms usually present much earlier than age 20 yrs. ...Read more

5

5
Is good to work outside while having cystic fibrosis?

Is good to work outside while having cystic fibrosis?

CF and environment: Depending on the severity of your cf, leading an active healthy lifestyle outside is not a fantasy. Common sense will dictate avoidance germs by simple hand hygiene (wash, wipe, alcohol base hand gels). Knowing your CF treatment plan as per your pulmonologist/specialist is important for slowing down the progression/maintaining a more resilient defense against bacterial/chronic lung infection. ...Read more

See 1 more doctor answer
7

7
How to tell if I have cystic fibrosis? Is it deadly?

How to tell if I have cystic fibrosis? Is it deadly?

Testing; can be: Cystic fibrosis (CF) can be diagnosed with appropriate examination by a doctor and a sweat chloride testing. No single symptom is unique to that disease. CF can be deadly, at any age, young or old. Severity varies greatly, and lung (respiratory) failure is the most common cause of death from cf. ...Read more

See 1 more doctor answer
8

8
What does it mean if I am a carrier cystic fibrosis?

What does it mean if I am a carrier cystic fibrosis?

One gene bad: The cftr gene codes for (has information for your body about) a sodium-chloride transporter on your cell membranes. If you have two bad copies you have cf, if you have one, you are a carrier. As many as 1 in 25 caucasian adults in the us has this mutation. If you are planning on having children, talk to your spouse about genetic counseling, unless your spouse is of asian or african descent. ...Read more

9

9
My 2 year old son had a throat culture that came back with a high reading of pseudomonas, is this a sign of cystic fibrosis?

My 2 year old son had a throat culture that came back with a high reading of pseudomonas, is this a sign of cystic fibrosis?

Need to rule CF out: I would have the culture repeated. Unfortunately, studies have shown 49% of 2 year olds had positive throat cultures for pseudomonas aeruginosa. Sweat testing and genetic testing should be performed. Check to see if newborn blood screen tested for cystic fibrosis (cf). ...Read more

See 1 more doctor answer
10

10
With cystic fibrosis, is everyday bad and what do they experience on a normal day?

No: Not every day is bad with cystic fibrosis! the severity of the disease varies from patient to patient. Some patient may not feel they have anything wrong with them. Others may experience breathing difficulties or other symptoms, for example abdominal discomfort. Patients with CF often are required to take numerous medications a day and receive numerous breathing treatments as well. ...Read more

See 1 more doctor answer
12

12
I was diagnosed with croup and later with laryngitis. I think i also have cystic fibrosis. How can I tell the difference between the two?

Doubtful: If you suspect you have cystic fibrosis and your doctor thinks further testing is warranted they should be able to order specific testing to rule it out. That being said, croup and laryngitis are not typical presentations of cystic fibrosis. CF symptoms usually present much earlier than age 20 yrs. ...Read more

13

13
My son has hirschsprung disease. My wife tested neg. for cystic fibrosis. Are the two related? Should I be tested for CF? I'm 32 w/no issues.

No, not related: Hirschsprung's disease is a congenital condition that leads to absence or lower numbers of nerve cells in the large intestine that are responsible for allowing the colon muscles to function, leading to constipation or inability to pass stool. Cystic fibrosis is an inherited recessive disorder of salt transport leading to thickened secretions. If your wife is negative, no need for you to be tested ...Read more

See 2 more doctor answers
14

14
Can you be a carrier of cystic fibrosis if you have two healthy parents?

Can you be a carrier of cystic fibrosis if you have two healthy parents?

Yes: Cystic fibrosis (CF) is a genetic disease, but it requires two faulty genes to be expressed as a disease. A healthy person can carry one defective CF gene and not be affected by cf. If each member of a couple has a defective CF gene, they have a 25% chance of having a child who inherits both defective copies of the CF gene. Depending on the type of CF gene defect, that child could then develop cf. ...Read more

See 1 more doctor answer
15

15
How should gene therapy treat these two diseases. Cystic fibrosis and parkinson disease?

Correct gene defects: Cystic fibrosis is a genetic disorder where a dysfunctional cftr protein causes problems in various organ systems. By restoring the function of this protein in the involved body systems, it is hoped that normal functionality will be restored & the harmful effects of CF disease will improve. There are still several obstacles before it can be successfully implemented in CF patients everywhere. ...Read more

16

16
Can someone be diagnose with cystic fibrosis in their 40's?

Can someone be diagnose with cystic fibrosis in their 40's?

As a carrier: Genetic carrier testing: more than 10 million americans are symptomless carriers of the defective CF gene. This blood test can help detect carriers, who could pass CF onto their children. To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent. ...Read more

17

17
How can cystic fibrosis affect p.I.E.S development?

How can cystic fibrosis affect p.I.E.S development?

Certainly: Cystic Fibrosis (CF) most common life-limiting genetic disorder of Caucasians, affecting approximately 30K people in the US.A, impacting mainly respiratory function. In recent years patients symptoms better controlled by genetic findings and better medications.Emotional & phys. development depend on severity, time in hospital, complications.Morb. & mort.factors afect emotional,cognitive behavior. ...Read more

18

18
I have symptoms of cystic fibrosis. Is it possible to start show the symptoms in my 30's?

Yes: Yes it is possible. Presentation of cystic fibrosis varies greatly, and it is possible, depending on your specific mutation (and other factors) to present at a later age. In order to prevent late diagnoses, all states now have a newborn screen in place for cystic fibrosis. ...Read more

See 1 more doctor answer